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Novel plasma and brain proteins that are implicated in multiple sclerosis.
- Published in:
- 2023
- By:
- Publication type:
- journal article
Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4042, doi. 10.3390/ijms23074042
- By:
- Publication type:
- Article
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
- By:
- Publication type:
- Article
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1890-0
- By:
- Publication type:
- Article
Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c
- By:
- Publication type:
- Article
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226
- By:
- Publication type:
- Article
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1120, doi. 10.1038/ng.3079
- By:
- Publication type:
- Article
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506
- By:
- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824
- By:
- Publication type:
- Article
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 906, doi. 10.1038/ng.661
- By:
- Publication type:
- Article
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0414-7
- By:
- Publication type:
- Article
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice.
- Published in:
- International Journal of Retina & Vitreous, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40942-023-00453-0
- By:
- Publication type:
- Article
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
- By:
- Publication type:
- Article
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 26885, doi. 10.1038/srep26885
- By:
- Publication type:
- Article
Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140919
- By:
- Publication type:
- Article
Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075067
- By:
- Publication type:
- Article
Mutations in the <i>EPHA2</i> Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072518
- By:
- Publication type:
- Article
Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067903
- By:
- Publication type:
- Article
Ethnic and Mouse Strain Differences in Central Corneal Thickness and Association with Pigmentation Phenotype.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022103
- By:
- Publication type:
- Article
Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009462
- By:
- Publication type:
- Article
Association of α2-Heremans-Schmid Glycoprotein Polymorphisms with Subclinical Atherosclerosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 345, doi. 10.1210/jc.2006-0429
- By:
- Publication type:
- Article
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3276-z
- By:
- Publication type:
- Article
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
- Published in:
- Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3
- By:
- Publication type:
- Article
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 379, doi. 10.1007/s00439-008-0555-z
- By:
- Publication type:
- Article
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 632, doi. 10.1038/ejhg.2011.248
- By:
- Publication type:
- Article
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0634-9
- By:
- Publication type:
- Article
Use of Corneal Biomechanical Measures as Endophenotypes for Understanding the Genetics of Keratoconus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?-Reply.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 358, doi. 10.1001/jamaophthalmol.2014.4915
- By:
- Publication type:
- Article
Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 8, p. 970, doi. 10.1001/jamaophthalmol.2014.946
- By:
- Publication type:
- Article
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58510-9
- By:
- Publication type:
- Article
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3257, doi. 10.1534/g3.117.300109
- By:
- Publication type:
- Article
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.
- Published in:
- Diabetes & Vascular Disease Research, 2016, v. 13, n. 2, p. 164, doi. 10.1177/1479164115616902
- By:
- Publication type:
- Article
Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study.
- Published in:
- Diabetes & Vascular Disease Research, 2008, v. 5, n. 2, p. 128, doi. 10.3132/dvdr.2008.021
- By:
- Publication type:
- Article
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
- Published in:
- Molecular Vision, 2018, v. 24, p. 261
- By:
- Publication type:
- Article
EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
- By:
- Publication type:
- Article
Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment.
- Published in:
- Journal of Diabetes Research, 2020, p. 1, doi. 10.1155/2020/5016916
- By:
- Publication type:
- Article
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
- Published in:
- Nature Communications, 2017, v. 8, n. 3, p. 14898, doi. 10.1038/ncomms14898
- By:
- Publication type:
- Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
- By:
- Publication type:
- Article
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 555, doi. 10.1002/mgg3.406
- By:
- Publication type:
- Article
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 624, doi. 10.1002/mgg3.248
- By:
- Publication type:
- Article
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 8, p. 1028, doi. 10.1111/ceo.13569
- By:
- Publication type:
- Article
Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non‐Indigenous Australians in South Australia and the Northern Territory.
- Published in:
- Clinical & Experimental Ophthalmology, 2018, v. 46, n. 4, p. 417, doi. 10.1111/ceo.13083
- By:
- Publication type:
- Article
Role of direct-to-consumer genetic testing for complex disease in diagnostics and research.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene.
- Published in:
- Clinical & Experimental Ophthalmology, 2015, v. 43, n. 2, p. 189, doi. 10.1111/ceo.12388
- By:
- Publication type:
- Article